ClinVar Miner

Submissions for variant NM_001371623.1(TCOF1):c.3530C>G (p.Pro1177Arg)

gnomAD frequency: 0.15799  dbSNP: rs1136103
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000118612 SCV000306810 benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001517375 SCV001725859 benign Treacher Collins syndrome 1 2025-02-03 criteria provided, single submitter clinical testing
GeneDx RCV001689664 SCV001908394 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000118612 SCV000153020 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.

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